Variant report

Variant	esv3529380
Chromosome Location	chr9:140458981-140463429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:140459582-140459634	K562	blood:	n/a	n/a
2	CTCF	chr9:140459588-140459619	MCF-7	breast:	n/a	n/a
3	CTCF	chr9:140459520-140459670	GM06990	blood:	n/a	n/a
4	CTCF	chr9:140459500-140459650	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr9:140459573-140459628	MCF-7	breast:	n/a	n/a
6	CTCF	chr9:140459592-140459622	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:140460266-140460502	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:140459571-140459885	GM12892	blood:	n/a	n/a
9	POLR2A	chr9:140459095-140459100	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:140459573-140459842	GM12891	blood:	n/a	n/a
11	POLR2A	chr9:140459534-140459848	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:140463226-140463232	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:140459330-140459372	HepG2	liver:	n/a	n/a
14	POLR2A	chr9:140458295-140459037	HepG2	liver:	n/a	n/a
15	POLR2A	chr9:140458939-140459299	K562	blood:	n/a	n/a
16	POLR2A	chr9:140459497-140459704	HepG2	liver:	n/a	n/a
17	POLR2A	chr9:140458954-140459560	K562	blood:	n/a	n/a
18	POLR2A	chr9:140460210-140460447	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr9:140460206-140460396	GM12878	blood:	n/a	n/a
20	POLR2A	chr9:140462099-140462297	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr9:140459510-140459929	GM12891	blood:	n/a	n/a
22	POLR2A	chr9:140458689-140459132	GM12878	blood:	n/a	n/a
23	POLR2A	chr9:140459313-140459560	K562	blood:	n/a	n/a
24	POLR2A	chr9:140459570-140459777	GM12878	blood:	n/a	n/a
25	POLR2A	chr9:140459350-140459534	GM12878	blood:	n/a	n/a
26	POLR2A	chr9:140459570-140459757	K562	blood:	n/a	n/a
27	POLR2A	chr9:140462044-140462220	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr9:140462027-140462210	GM12878	blood:	n/a	n/a
29	POLR2A	chr9:140458863-140459045	GM12878	blood:	n/a	n/a
30	POLR2A	chr9:140458932-140459541	Hela-S3	cervix:	n/a	n/a
31	SPI1	chr9:140462973-140463246	HL-60	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140455710..140458390-chr9:140463319..140465184,2	MCF-7	breast:
2	chr9:140448822..140451446-chr9:140457626..140459240,2	K562	blood:
3	chr9:140463229..140465776-chr9:140474685..140477530,2	MCF-7	breast:
4	chr9:140457953..140460745-chr9:140471921..140474546,2	K562	blood:

No data

Variant related genes	Relation type
DPH7	TF binding region
ENSG00000148399	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570985439	chr9:140458995-140458996	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369931230	chr9:140459001-140459002	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200103991	chr9:140459004-140459005	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374074310	chr9:140459010-140459011	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200475571	chr9:140459011-140459012	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377661114	chr9:140459056-140459057	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371321554	chr9:140459059-140459060	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141614671	chr9:140459061-140459062	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs45526848	chr9:140459082-140459083	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375705610	chr9:140459096-140459097	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561058596	chr9:140459124-140459125	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537874196	chr9:140459126-140459127	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554569527	chr9:140459149-140459150	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183762353	chr9:140459213-140459214	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534031650	chr9:140459214-140459215	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554016189	chr9:140459229-140459230	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186601990	chr9:140459251-140459252	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530002742	chr9:140459263-140459264	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192724818	chr9:140459264-140459265	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368029528	chr9:140459304-140459305	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371490391	chr9:140459310-140459311	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185417849	chr9:140459369-140459370	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201129300	chr9:140459370-140459371	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541845151	chr9:140459375-140459376	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140556723	chr9:140459377-140459378	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561702401	chr9:140459392-140459393	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548613402	chr9:140459402-140459403	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201475279	chr9:140459424-140459425	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202157040	chr9:140459425-140459426	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533603366	chr9:140459436-140459437	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376677185	chr9:140459438-140459439	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190720060	chr9:140459481-140459482	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370069135	chr9:140459492-140459493	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs202076329	chr9:140459493-140459494	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373733888	chr9:140459512-140459513	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200480555	chr9:140459529-140459530	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs150467075	chr9:140459545-140459546	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs137935280	chr9:140459562-140459563	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs62000380	chr9:140459563-140459564	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144597061	chr9:140459582-140459583	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531404931	chr9:140459596-140459597	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373555595	chr9:140459602-140459603	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181644541	chr9:140459604-140459605	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568018136	chr9:140459620-140459621	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368546240	chr9:140459655-140459656	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs184458517	chr9:140459671-140459672	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554080185	chr9:140459672-140459673	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112671826	chr9:140459696-140459697	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs202023302	chr9:140459702-140459703	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs11137133	chr9:140459724-140459725	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140446800-140459800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:140447000-140464200	Weak transcription	Fetal Kidney	kidney
3	chr9:140447200-140459400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:140447200-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:140447200-140470200	Weak transcription	Stomach Mucosa	stomach
6	chr9:140447200-140471800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:140447400-140459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:140447400-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:140447400-140466800	Weak transcription	Psoas Muscle	Psoas
10	chr9:140447400-140469400	Weak transcription	Right Atrium	heart
11	chr9:140447400-140471800	Weak transcription	Small Intestine	intestine
12	chr9:140447600-140459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:140447600-140459800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:140447600-140459800	Strong transcription	Fetal Stomach	stomach
15	chr9:140448000-140459600	Strong transcription	Fetal Brain Female	brain
16	chr9:140448400-140459600	Strong transcription	Fetal Intestine Large	intestine
17	chr9:140448800-140459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:140449000-140459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:140449200-140459600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:140449400-140459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:140449400-140459600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:140451000-140459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:140451000-140459600	Strong transcription	Fetal Intestine Small	intestine
26	chr9:140451000-140459800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:140451200-140459800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:140451200-140466800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr9:140451400-140459800	Strong transcription	Fetal Muscle Leg	muscle
30	chr9:140451400-140465000	Weak transcription	HSMM	muscle
31	chr9:140452600-140459400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:140452600-140459600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:140453000-140471400	Weak transcription	Fetal Brain Male	brain
34	chr9:140453600-140459600	Strong transcription	Primary T cells from cord blood	blood
35	chr9:140454000-140459200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr9:140454000-140459600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:140454200-140459600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:140454200-140459800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:140454200-140459800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr9:140454400-140459600	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr9:140454800-140459400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:140455200-140466400	Weak transcription	HUVEC	blood vessel
43	chr9:140455600-140459800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:140455800-140459800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr9:140456000-140459200	Strong transcription	Fetal Lung	lung
46	chr9:140456000-140459400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr9:140456000-140459400	Strong transcription	Brain Anterior Caudate	brain
48	chr9:140456000-140459600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr9:140456000-140459600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:140456000-140459600	Strong transcription	Monocytes-CD14+_RO01746	blood

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